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rs797045976

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045976(A;A)
Make rs797045976(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position2115858
GeneSMARCA2
is asnp
is mentioned by
dbSNPrs797045976
ebirs797045976
HLIrs797045976
Exacrs797045976
Varsomers797045976
Maprs797045976
PheGenIrs797045976
hapmaprs797045976
1000 genomesrs797045976
hgdprs797045976
ensemblrs797045976
gopubmedrs797045976
geneviewrs797045976
scholarrs797045976
googlers797045976
pharmgkbrs797045976
gwascentralrs797045976
openSNPrs797045976
23andMers797045976
23andMe allrs797045976
SNP Nexus

SNPshotrs797045976
SNPdbers797045976
MSV3drs797045976
GWAS Ctlgrs797045976
Max Magnitude0
ClinVar
Risk rs797045976(A;A)
Alt rs797045976(A;A)
Reference rs797045976(C;C)
Significance Probable-Pathogenic
Disease Nicolaides-Baraitser syndrome
Variation info
Gene SMARCA2
CLNDBN Nicolaides-Baraitser syndrome
Reversed 0
HGVS NC_000009.11:g.2115858C>A
CLNSRC
CLNACC RCV000194318.1,